ClinVar Miner

List of variants in gene DYSF studied for Miyoshi muscular dystrophy 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter) rs121908953
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp) rs121908957
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) rs121908956
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp) rs1024524968
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) rs121908963
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.